Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116822653_116822657delinsTCTTA , CM000673.2:g.116822653_116822657delinsTCTTA | GRCh38 |
| NC_000011.9:g.116693369_116693373delinsTCTTA , CM000673.1:g.116693369_116693373delinsTCTTA | GRCh37 |
| NC_000011.8:g.116198579_116198583delinsTCTTA | NCBI36 |
| NG_012044.1:g.5639_5643delinsTAAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357780.5:c.176+2_176+6delinsTAAGA MANE Select | ENSP00000350425.3:n.176+2_176+6delinsTAAGA | |
| ENST00000357780.4:c.176+2_176+6delinsTAAGA | ENSP00000350425.3:n.176+2_176+6delinsTAAGA | |
| NM_000482.3:c.176+2_176+6delinsTAAGA | NP_000473.2:n.176+2_176+6delinsTAAGA | |
| NM_000482.4:c.176+2_176+6delinsTAAGA MANE Select | NP_000473.2:n.176+2_176+6delinsTAAGA |